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Links from MedGen

Items: 1 to 20 of 162

1.
Frédéric Chaux, Nicolas Agier, Clotilde Garrido, Gilles Fischer, Stephan Eberhard, Zhou Xu
Genome Res. 2023 Sep; 33(9): 1582–1598. doi: 10.1101/gr.278043.123
PMCID:
PMC10620057
2.
Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D. Overton, Jing Xiao, Ariel Martinez, Max Muenke, Alexander Balzer, Judith Jochim, Naji El Choubassi, Björn Fischer-Zirnsak, Céline Huber, Uwe Kornak, Sarah Elsea, Valérie Cormier-Daire, Carlos R. Ferreira
Bone.
Published in final edited form as: Bone. 2020 Apr; 133: 115219. Published online 2020 Jan 7. doi: 10.1016/j.bone.2019.115219
PMCID:
PMC10521254
3.
Xiaodong Yang, Siyu Pu, Bo Xiang, Xueyang Tang, Jing Chen
BMC Pediatr. 2023; 23: 424. Published online 2023 Aug 25. doi: 10.1186/s12887-023-04167-y
PMCID:
PMC10463978
4.
Lulu Yan, Juan Cao, Yuxin Zhang, Yingwen Liu, Jinghui Zou, Biying Lou, Danyan Zhuang, Haibo Li
BMC Med Genomics. 2023; 16: 190. Published online 2023 Aug 17. doi: 10.1186/s12920-023-01631-7
PMCID:
PMC10433562
5.
Haika Mariki, Kandi Muze, Fatima Mussa, Karim Premji Manji
BMJ Case Rep. 2023; 16(7): e253155. Published online 2023 Jul 12. doi: 10.1136/bcr-2022-253155
PMCID:
PMC10347497
6.
Sarah J. Gignac, Katja R. MacCharles, Katherine Fu, Kywana Bonaparte, Gamze Akarsu, Thalia W. Barrett, Esther M. Verheyen, Joy M. Richman
Dis Model Mech. 2023 Apr 1; 16(4): dmm049844. Published online 2023 Apr 13. doi: 10.1242/dmm.049844
PMCID:
PMC10120075
7.
Fernanda Salles Reis, Débora Cristiane Gomes, Henrique Pierotti Arantes, Marise Lazaretti-Castro
Arch Endocrinol Metab. 2020 Sep-Oct; 64(5): 623–629. Published online 2020 Mar 30. doi: 10.20945/2359-3997000000222
PMCID:
PMC10118956
8.
Ryan P. Liegel, Megan N. Michalski, Sanika Vaidya, Elizabeth Bittermann, Erin Finnerty, Chelsea A. Menke, Cassandra R. Diegel, Zhendong A. Zhong, Bart O. Williams, Rolf W. Stottmann
Development. 2023 Feb 1; 150(3): dev201038. Published online 2023 Feb 15. doi: 10.1242/dev.201038
PMCID:
PMC10112907
9.
Xuming Zhu, Mingang Xu, N. Adrian Leu, Edward E. Morrisey, Sarah E. Millar
Dis Model Mech. 2023 Mar 1; 16(3): dmm049876. Published online 2023 Mar 24. doi: 10.1242/dmm.049876
PMCID:
PMC10073008
10.
Shyam K. Akula, Jack H. Marciano, Youngshin Lim, David Exposito-Alonso, Norma K. Hylton, Grace H. Hwang, Jennifer E. Neil, Nicole Dominado, Rosie K. Bunton-Stasyshyn, Janet H. T. Song, Maya Talukdar, Aloisia Schmid, Lydia Teboul, Alisa Mo, Taehwan Shin, Benjamin Finander, Samantha G. Beck, Rebecca C. Yeh, Aoi Otani, Xuyu Qian, Ellen M. DeGennaro, Fowzan S. Alkuraya, Sateesh Maddirevula, Gregory D. Cascino, Caterina Giannini, Undiagnosed Diseases Network, Lindsay C. Burrage, Jill A. Rosenfield, Shamika Ketkar, Gary D. Clark, Carlos Bacino, Richard A. Lewis, Rosalind A. Segal, J. Fernando Bazan, Kelly A. Smith, Jeffrey A. Golden, Ginam Cho, Christopher A. Walsh
Proc Natl Acad Sci U S A. 2023 Jan 24; 120(4): e2209964120. Published online 2023 Jan 20. doi: 10.1073/pnas.2209964120
PMCID:
PMC9942790
11.
Marios Sagris, Panagiotis Theofilis, Alexios S. Antonopoulos, Konstantinos Tsioufis, Dimitris Tousoulis
Int J Mol Sci. 2022 Dec; 23(24): 16010. Published online 2022 Dec 16. doi: 10.3390/ijms232416010
PMCID:
PMC9781338
12.
Sanjiv Neupane, Steven J. Berardinelli, Daniel C. Cameron, Richard C. Grady, David E. Komatsu, Christopher J. Percival, Megumi Takeuchi, Atsuko Ito, Ta-Wei Liu, Alison V. Nairn, Kelley W. Moremen, Robert S. Haltiwanger, Bernadette C. Holdener
Matrix Biol.
Published in final edited form as: Matrix Biol. 2022 Mar; 107: 77–96. Published online 2022 Feb 12. doi: 10.1016/j.matbio.2022.02.002
PMCID:
PMC9606722
13.
Karen K. McKee, Peter D. Yurchenco
JCI Insight. 2022 Jul 8; 7(13): e158397. Published online 2022 Jul 8. doi: 10.1172/jci.insight.158397
PMCID:
PMC9310540
14.
Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio C. Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Cordoba, Erica C.C. Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri-Costa, Décio Brunoni, Talyta M. Canó, Alexander A. L. Jorge, Chong A. Kim, Rachel Honjo, Débora R. Bertola, Raissa M. Dandalo-Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz-Gulec, Evren Gumus, Gülay C. Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban–Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo W. Pereira, Paulo A. Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela M. Vianna-Morgante, Claudia M. B. Carvalho, Juliana F. Mazzeu
Hum Mutat.
Published in final edited form as: Hum Mutat. 2022 Jul; 43(7): 900–918. Published online 2022 May 10. doi: 10.1002/humu.24375
PMCID:
PMC9177636
15.
Brian A. Hodge, Geoffrey T. Meyerhof, Subhash D. Katewa, Ting Lian, Charles Lau, Sudipta Bar, Nicole Y. Leung, Menglin Li, David Li-Kroeger, Simon Melov, Birgit Schilling, Craig Montell, Pankaj Kapahi
Nat Commun. 2022; 13: 3156. Published online 2022 Jun 7. doi: 10.1038/s41467-022-30975-4
PMCID:
PMC9174495
16.
Yin Yeng Lee, Sibel Cal-Kayitmazbatir, Lauren J. Francey, Michael Seifu Bahiru, Katharina E. Hayer, Gang Wu, Molly J. Zeller, Robyn Roberts, James Speers, Justin Koshalek, Mark E. Berres, Eric L. Bittman, John B. Hogenesch
Proc Natl Acad Sci U S A. 2022 May 3; 119(18): e2123560119. Published online 2022 Apr 26. doi: 10.1073/pnas.2123560119
PMCID:
PMC9170138
17.
Mei Methawasin, Gerrie P. Farman, Shawtaroh Granzier-Nakajima, Joshua Strom, Balazs Kiss, John E Smith, III, Henk Granzier
J Mol Cell Cardiol.
Published in final edited form as: J Mol Cell Cardiol. 2022 Apr; 165: 103–114. Published online 2022 Jan 11. doi: 10.1016/j.yjmcc.2022.01.002
PMCID:
PMC8940690
18.
Mohammad Vafaee-Shahi, Saeide Ghasemi, Aina Riahi, Zahra Sadr
Ital J Pediatr. 2022; 48: 27. Published online 2022 Feb 14. doi: 10.1186/s13052-022-01215-8
PMCID:
PMC8842551
19.
Elena F. Boer, Hannah F. Van Hollebeke, Emily T. Maclary, Carson Holt, Mark Yandell, Michael D. Shapiro
Curr Biol.
Published in final edited form as: Curr Biol. 2021 Nov 22; 31(22): 5069–5076.e5. Published online 2021 Sep 21. doi: 10.1016/j.cub.2021.08.068
PMCID:
PMC8612976
20.
Magdalena Socha, Anna Sowińska-Seidler, Uirá Souto Melo, Bjørt K. Kragesteen, Martin Franke, Verena Heinrich, Robert Schöpflin, Inga Nagel, Nicolas Gruchy, Stefan Mundlos, Varun K.A. Sreenivasan, Cristina López, Martin Vingron, Ewelina Bukowska-Olech, Malte Spielmann, Aleksander Jamsheer
Am J Hum Genet. 2021 Sep 2; 108(9): 1725–1734. Published online 2021 Aug 24. doi: 10.1016/j.ajhg.2021.08.001
PMCID:
PMC8456176

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